Exons 14 and 15, encoding most of the C2C domain of the protein, have been deleted. RT-PCR analysis of cochleae of homozygous mutant mice confirmed the presence of an mRNA lacking the sequence encoded by the deleted exons. Translation of this mRNA would be frame-shifted, leading to a premature termination codon; absence of the expected truncated protein in homozygous mutant cochleae was demonstrated by immunohistolabeling and immunoblot analysis. (J:116097)
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基础信息

模型ID
品系来源
等位基因类型
突变
遗传方式
相关基因
相关疾病
参考文献
129S2/SvPas
Targeted
Intragenic deletion
Recessive
1
10
13

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标签摘要:
hm: 纯合子
ht: 杂合子
cn: 条件基因型
cx: 复合型:涉及多基因组
tg: 转基因
ot: 其他:半合子、不确定...
(F): 雌性
(M): 雄性
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N: 正常表型
(#): 上标括号内为相关疾病数量
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